Citizen Health, formerly Ciitizen, has launched a brand new onboarding experience - and it's better than ever! We’re partnered with Citizen Health to build critical natural history studies for our community - no site visits required! Citizen will do the work to collect your comprehensive medical history into your secure, digital profile and give you the…
Here’s our latest CTNNB1 registry numbers: Thank you to everyone for participating and helping the researchers understand CTNNB1 syndrome and developmental milestones for our kids! Our registry is a crucial step in the process of finding treatments and also a cure. We continue to make great progress 👏👏👏 If you haven’t registered yet, please follow these…
Thanks to all the support from the CTNNB1 community and the Orphan Disease Center, the Million Dollar Bike Ride (MDBR) held in Philadelphia on June 8, 2024, raised an amazing $63,312 for CTNNB1 research. We are excited to offer a one-year grant to support research related to CTNNB1 Syndrome. **Letters of Interest (LOI) Applications are Due Friday, September…
We are honored to share the following article, written by Perla Sandoval & Allison Brown at La Jolla Labs, Inc. It discusses the history of our understanding of the disease and the state of current treatment options. Check it out and share! https://www.genome.bio/post/searching-for-a-cure-for-ctnnb1-syndrome
Dr. Jacob at Tufts University has identified a small molecule that shows the potential to alleviate many of our dragonfly’s learning and motor symptoms. She has been working diligently with medicinal chemists to find the best version of this small molecule to use in our patients. One version has already been through phase II clinical trials…
The Penn Medicine Orphan Disease Center (ODC) will host the 11th Annual Million Dollar Bike Ride on Saturday, June 8, 2024 to raise money for rare disease research. The Million Dollar Bike Ride brings over 600 cyclists and volunteers to Penn’s campus to ride either 10, 32, or 72 miles starting in the city, and ranging…
Are you the caregiver of someone with CTNNB1 syndrome? Join our search for answers by signing up for Simons Searchlight, an international research program with the goal of accelerating science and improving lives for people with rare genetic neurodevelopmental disorders. Your unique experience could hold the clues that scientists need to find treatments and a cure! Step…
Several recent studies support genetic testing for ALL patients with Cerebral Palsy. The Weinberg Family CP Center at Columbia University has put this into practice. Dr. Jason Carmel, Executive Director, explains "we routinely screen all of our patients with CP for a genetic cause." This is also the reason we partner with Probably Genetic to provide…
Rare Epilepsy Network (REN) is a volunteer network that connects rare epilepsy organizations and broad epilepsy stakeholders to work together to improve the lives lived of our individual constituents. They work to promote and enable successful patient-centered outcomes research, enable successful clinical trials in the rare epilepsies, and increase representation of the rare epilepsies in funding, research,…
Jennifer M. Bain, MD, PhD, is a physician scientist specializing in pediatric neurology. Dr. Bain is leading the cerebral palsy genetics study at the Weinberg Family Cerebral Palsy Center at Columbia University. She has a special interest in developmental disorders, including CTNNB1. Dr. Bain performed neurology assessments this past summer for our Natural History Study, and…